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Ester Silveira Ramos

Publications and source records attributed to Ester Silveira Ramos.

5 recordsLinked to original sources
PubMed2005

Down syndrome and precocious menopause.

PURPOSE: To determine whether women who had children with Down syndrome (DS) had precocious menopause. METHODS: We selected 104 mothers of children with DS and 121 normal women who had children with no genetic problems. We conducted an interview and compared their mean age at menopause. RESULTS: We did not detect a statistically significant difference in mean age at menopause. When we stratified into women who had conceived when younger or older than 35 years of age, we found a statistically significant difference only for women who had conceived at the age of 35 years or older. We observed three cases of previous unilateral ovarian surgery in the study group and one case in the control group. CONCLUSIONS: We cannot conclude that mothers of children with DS will have precocious menopause. Nevertheless, our findings do not exclude the theory of reduced ovarian reserve as a primordial factor in the genesis of DS.

Adult↗
PubMed2003

Beckwith-Wiedemann syndrome and isolated hemihyperplasia.

CONTEXT: Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome. OBJECTIVES: A clinical and molecular review and proposal of the use of an experimental protocol to provide a practical approach for the physician. DATA SYNTHESIS: This review demonstrates the genetic and epigenetic mechanisms involved in the Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and the candidate genes. To our knowledge, this is the first Brazilian protocol for research into these disorders. The results have been used at the Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, to elucidate the basis of Beckwith-Wiedemann syndrome and isolated hemihyperplasia, and have been applied at the Hospital Universitário of the Faculdade de Medicina. CONCLUSIONS: Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families.

Beckwith-Wiedemann Syndrome↗
PubMedDate not supplied

Genomic-based nursing care for women with Turner Syndrome: genomic-based nursing care.

Biologic and technologic advances generated from The Human Genome Project are having a dramatic impact on the expanding role of nurses in current health care practice. New genetic research needs to be transformed rapidly into clinical protocols with recommendations for delivering care to targeted populations. Nurses can contribute significantly, as part of an interdisciplinary approach, to translate genome-based knowledge into benefits for health care and society. In this context, we describe a clinical-genetic investigation protocol, as well nursing diagnosis, interventions and outcomes for clients with Turner Syndrome (TS) at risk for develop gonadal tumors, due the presence of a normal or abnormal Y chromosome.

Female↗